Works matching IS 09646906 AND DT 2015 AND VI 24 AND IP 20

Results: 38

Safe and bodywide muscle transduction in young adult Duchenne muscular dystrophy dogs with adeno-associated virus.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5880, doi. 10.1093/hmg/ddv310

By:

Yongping Yue;
Xiufang Pan;
Hakim, Chady H.;
Kodippili, Kasun;
Keqing Zhang;
Jin-Hong Shin;
Hsiao T. Yang;
McDonald, Thomas;
Dongsheng Duan

Publication type:

Article

A new mouse model for stationary night blindness with mutant Slc24a1 explains the pathophysiology of the associated human disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5915, doi. 10.1093/hmg/ddv319

By:

Vinberg, Frans;
Tian Wang;
Molday, Robert S.;
Chen, Jeannie;
Kefalov, Vladimir J.

Publication type:

Article

Mutation p.L799R in the LDLR, which affects the transmembrane domain of the LDLR, prevents membrane insertion and causes secretion of the mutant LDLR.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5836, doi. 10.1093/hmg/ddv304

By:

Strøm, Thea Bismo;
Laerdahl, Jon K.;
Leren, Trond P.

Publication type:

Article

Layered genetic control of DNA methylation and gene expression: a locus of multiple sclerosis in healthy individuals.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5733, doi. 10.1093/hmg/ddv294

By:

Shin, Jean;
Bourdon, Celine;
Bernard, Manon;
Wilson, Michael D.;
Reischl, Eva;
Waldenberger, Melanie;
Ruggeri, Barbara;
Schumann, Gunter;
Desrivieres, Sylvane;
Leemans, Alexander;
Abrahamowicz, Michal;
Leonard, Gabriel;
Richer, Louis;
Bouchard, Luigi;
Gaudet, Daniel;
Paus, Tomas;
Pausova, Zdenka

Publication type:

Article

Lyso-Gb3 activates Notch1 in human podocytes.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5720, doi. 10.1093/hmg/ddv291

By:

Sanchez-Niño, Maria D.;
Carpio, Daniel;
Sanz, Ana Belen;
Ruiz-Ortega, Marta;
Mezzano, Sergio;
Ortiz, Alberto

Publication type:

Article

Loss of fibulin-4 disrupts collagen synthesis and maturation: implications for pathology resulting from EFEMP2 mutations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5867, doi. 10.1093/hmg/ddv308

By:

Papke, Christina L.;
Jun Tsunezumi;
Ringuette, Léa-Jeanne;
Hideaki Nagaoka;
Masahiko Terajima;
Yoshito Yamashiro;
Urquhart, Greg;
Mitsuo Yamauchi;
Davis, Elaine C.;
Hiromi Yanagisawa

Publication type:

Article

Altering 5-hydroxymethylcytosine modification impacts ischemic brain injury.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5855, doi. 10.1093/hmg/ddv307

By:

Zhigang Miao;
Yuquan He;
Ning Xin;
Miao Sun;
Li Chen;
Li Lin;
Jizhen Li;
Jiming Kong;
Peng Jin;
Xingshun Xu

Publication type:

Article

Genome-wide association study identifies SNPs in the MHC class II loci that are associated with self-reported history of whooping cough.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5930, doi. 10.1093/hmg/ddv293

By:

McMahon, George;
Ring, Susan M.;
Davey-Smith, George;
Timpson, Nicholas J.

Publication type:

Article

Shared genetics underlying epidemiological association between endometriosis and ovarian cancer.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5955, doi. 10.1093/hmg/ddv306

By:

Yi Lu;
Cuellar-Partida, Gabriel;
Painter, Jodie N.;
Nyholt, Dale R.;
Morris, Andrew P.;
Fasching, Peter A.;
Hein, Alexander;
Burghaus, Stefanie;
Beckmann, Matthias W.;
Lambrechts, Diether;
Van Nieuwenhuysen, Els;
Vergote, Ignace;
Vanderstichele, Adriaan;
Doherty, Jennifer Anne;
Rossing, Mary Anne;
Wicklund, Kristine G.;
Chang-Claude, Jenny;
Eilber, Ursula;
Rudolph, Anja;
Shan Wang-Gohrke

Publication type:

Article

Muscle hypertrophy induced by myostatin inhibition accelerates degeneration in dysferlinopathy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5711, doi. 10.1093/hmg/ddv288

By:

Yun-Sil Lee;
Lehar, Adam;
Sebald, Suzanne;
Min Liu;
Swaggart, Kayleigh A.;
Talbot Jr, C. Conover;
Pytel, Peter;
Barton, Elisabeth R.;
McNally, Elizabeth M.;
Se-Jin Lee

Publication type:

Article

Mutations in the histamine N-methyltransferase gene, HNMT, are associated with nonsyndromic autosomal recessive intellectual disability.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5697, doi. 10.1093/hmg/ddv286

By:

Heidari, Abolfazl;
Chanakan Tongsook;
Najafipour, Reza;
Musante, Luciana;
Vasli, Nasim;
Garshasbi, Masoud;
Hao Hu;
Mittal, Kirti;
McNaughton, Amy J. M.;
Sritharan, Kumudesh;
Hudson, Melissa;
Stehr, Henning;
Talebi, Saeid;
Moradi, Mohammad;
Darvish, Hossein;
Rafiq, Muhammad Arshad;
Mozhdehipanah, Hossein;
Rashidinejad, Ali;
Samiei, Shahram;
Ghadami, Mohsen

Publication type:

Article

Structural basis of glycogen branching enzyme deficiency and pharmacologic rescue by rational peptide design.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5667, doi. 10.1093/hmg/ddv280

By:

Froese, D. Sean;
Michaeli, Amit;
McCorvie, Thomas J.;
Krojer, Tobias;
Sasi, Meitav;
Melaev, Esther;
Goldblum, Amiram;
Zatsepin, Maria;
Lossos, Alexander;
Álvarez, Rafael;
Escribá, Pablo V.;
Minassian, Berge A.;
von Delft, Frank;
Kakhlon, Or;
Yue, Wyatt W.

Publication type:

Article

E-cadherin-defective gastric cancer cells depend on Laminin to survive and invade.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5891, doi. 10.1093/hmg/ddv312

By:

Caldeira, Joana;
Figueiredo, Joana;
Brás-Pereira, Catarina;
Carneiro, Patrícia;
Moreira, Ana M.;
Pinto, Marta T.;
Relvas, João B.;
Carneiro, Fátima;
Barbosa, Mário;
Casares, Fernando;
Janody, Florence;
Seruca, Raquel

Publication type:

Article

Rescue of the abnormal skeletal phenotype in Ts65Dn Down syndrome mice using genetic and therapeutic modulation of trisomic Dyrk1a.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5687, doi. 10.1093/hmg/ddv284

By:

Blazek, Joshua D.;
Abeysekera, Irushi;
Jiliang Li;
Roper, Randall J.

Publication type:

Article

A new model to study neurodegeneration in ataxia oculomotor apraxia type 2.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5759, doi. 10.1093/hmg/ddv296

By:

Becherel, Olivier J.;
Sun, Jane;
Yeo, Abrey J.;
Nayler, Sam;
Fogel, Brent L.;
Fuying Gao;
Coppola, Giovanni;
Criscuolo, Chiara;
De Michele, Giuseppe;
Wolvetang, Ernst;
Lavin, Martin F.

Publication type:

Article

Missense mutations in TENM4, a regulator of axon guidance and central myelination, cause essential tremor.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5677, doi. 10.1093/hmg/ddv281

By:

Hyun Hor;
Francescatto, Ludmila;
Bartesaghi, Luca;
Ortega-Cubero, Sara;
Kousi, Maria;
Lorenzo-Betancor, Oswaldo;
Jiménez-Jiménez, Felix J.;
Gironell, Alexandre;
Clarimón, Jordi;
Drechsel, Oliver;
Agúndez, José A. G.;
Kenzelmann Broz, Daniela;
Chiquet-Ehrismann, Ruth;
Lleó, Alberto;
Coria, Francisco;
García-Martin, Elena;
Alonso-Navarro, Hortensia;
Martí, Maria J.;
Kulisevsky, Jaume;
Hor, Charlotte N.

Publication type:

Article

A multiancestry study identifies novel genetic associations with CHRNA5 methylation in human brain and risk of nicotine dependence.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5940, doi. 10.1093/hmg/ddv303

By:

Hancock, Dana B.;
Jen-Chyong Wang;
Gaddis, Nathan C.;
Levy, Joshua L.;
Saccone, Nancy L.;
Stitzel, Jerry A.;
Goate, Alison;
Bierut, Laura J.;
Johnson, Eric O.

Publication type:

Article

Mutations in SIPA1L3 cause eye defects through disruption of cell polarity and cytoskeleton organization.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5789, doi. 10.1093/hmg/ddv298

By:

Greenlees, Rebecca;
Mihelec, Marija;
Yousoof, Saira;
Speidel, Daniel;
Wu, Selwin K.;
Rinkwitz, Silke;
Prokudin, Ivan;
Perveen, Rahat;
Cheng, Anson;
Ma, Alan;
Nash, Benjamin;
Gillespie, Rachel;
Loebel, David A. F.;
Clayton-Smith, Jill;
Lloyd, I. Christopher;
Grigg, John R.;
Tam, Patrick P. L.;
Yap, Alpha S.;
Becker, Thomas S.;
Black, Graeme C. M.

Publication type:

Article

Engrailed-2 (En2) deletion produces multiple neurodevelopmental defects in monoamine systems, forebrain structures and neurogenesis and behavior.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5805, doi. 10.1093/hmg/ddv301

By:

Genestine, Matthieu;
Lulu Lin;
Durens, Madel;
Yan Yan;
Yiqin Jiang;
Prem, Smrithi;
Bailoor, Kunal;
Kelly, Brian;
Sonsalla, Patricia K.;
Matteson, Paul G.;
Silverman, Jill;
Crawley, Jacqueline N.;
Millonig, James H.;
DiCicco-Bloom, Emanuel

Publication type:

Article

Activating the translational repressor 4E-BP or reducing S6K-GSK3β activity prevents accelerated axon growth induced by hyperactive mTOR in vivo.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5746, doi. 10.1093/hmg/ddv295

By:

Xuan Gong;
Longbo Zhang;
Tianxiang Huang;
Lin, Tiffany V.;
Miyares, Laura;
Wen, John;
Hsieh, Lawrence;
Bordey, Angélique

Publication type:

Article

A novel type of rhizomelic chondrodysplasia punctata, RCDP5, is caused by loss of the PEX5 long isoform.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5845, doi. 10.1093/hmg/ddv305

By:

Barøy, Tuva;
Koster, Janet;
Strømme, Petter;
Ebberink, Merel S.;
Misceo, Doriana;
Ferdinandusse, Sacha;
Holmgren, Asbjørn;
Hughes, Timothy;
Merckoll, Else;
Westvik, Jostein;
Woldseth, Berit;
Walter, John;
Wood, Nick;
Tvedt, Bjørn;
Stadskleiv, Kristine;
Wanders, Ronald J. A.;
Waterham, Hans R.;
Frengen, Eirik

Publication type:

Article

Altered TFEB-mediated lysosomal biogenesis in Gaucher disease iPSC-derived neuronal cells.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5775, doi. 10.1093/hmg/ddv297

By:

Awad, Ola;
Sarkar, Chinmoy;
Panicker, Leelamma M.;
Miller, Diana;
Xianmin Zeng;
Sgambato, Judi A.;
Lipinski, Marta M.;
Feldman, Ricardo A.

Publication type:

Article

High-throughput genetic characterization of a cohort of Brugada syndrome patients.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5828, doi. 10.1093/hmg/ddv302

By:

Di Resta, Chiara;
Pietrelli, Alessandro;
Sala, Simone;
Della Bella, Paolo;
De Bellis, Gianluca;
Ferrari, Maurizio;
Bordoni, Roberta;
Benedetti, Sara

Publication type:

Article

Endogenous DUX4 expression in FSHD myotubes is sufficient to cause cell death and disrupts RNA splicing and cell migration pathways.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. 5901, doi. 10.1093/hmg/ddv315

By:

Rickard, Amanda M.;
Petek, Lisa M.;
Miller, Daniel G.

Publication type:

Article

Recent advances in understanding the genetic architecture of type 2 diabetes.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R85, doi. 10.1093/hmg/ddv264

By:

Mohlke, Karen L.;
Boehnke, Michael

Publication type:

Article

Rett syndrome: disruption of epigenetic control of postnatal neurological functions.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R10, doi. 10.1093/hmg/ddv217

By:

Pohodich, Amy E.;
Zoghbi, Huda Y.

Publication type:

Article

Receptor tyrosine kinase mutations in developmental syndromes and cancer: two sides of the same coin.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R60, doi. 10.1093/hmg/ddv254

By:

McDonell, Laura M.;
Kernohan, Kristin D.;
Boycott, Kym M.;
Sawyer, Sarah L.

Publication type:

Article

Antigen-specific T cell therapies for cancer.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R67, doi. 10.1093/hmg/ddv270

By:

Manzo, Teresa;
Heslop, Helen E.;
Rooney, Cliona M.

Publication type:

Article

Non-coding genetic variants in human disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R102, doi. 10.1093/hmg/ddv259

By:

Feng Zhang;
Lupski, James R.

Publication type:

Article

Strategies for fine-mapping complex traits.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R111, doi. 10.1093/hmg/ddv260

By:

Spain, Sarah L.;
Barrett, Jeffrey C.

Publication type:

Article

Epigenetic mechanisms in diurnal cycles of metabolism and neurodevelopment.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R1, doi. 10.1093/hmg/ddv234

By:

Powell, Weston T.;
LaSalle, Janine M.

Publication type:

Article

Application of single-cell genomics in cancer: promise and challenges.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R74, doi. 10.1093/hmg/ddv235

By:

Wills, Quin F.;
Mead, Adam J.

Publication type:

Article

New insights into craniofacial malformations.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R50, doi. 10.1093/hmg/ddv228

By:

Twigg, Stephen R. F.;
Wilkie, Andrew O. M.

Publication type:

Article

Pathways to Parkinsonism Redux: convergent pathobiological mechanisms in genetics of Parkinson's disease.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R32, doi. 10.1093/hmg/ddv236

By:

Kumaran, Ravindran;
Cookson, Mark R.

Publication type:

Article

CNVs in neuropsychiatric disorders.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R45, doi. 10.1093/hmg/ddv253

By:

Kirov, George

Publication type:

Article

Genetics of human metabolism: an update.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R93, doi. 10.1093/hmg/ddv263

By:

Kastenmüller, Gabi;
Raffler, Johannes;
Gieger, Christian;
Suhre, Karsten

Publication type:

Article

Loss of epigenetic silencing of the DUX4 transcription factor gene in facioscapulohumeral muscular dystrophy.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R17, doi. 10.1093/hmg/ddv237

By:

Hewitt, Jane E.

Publication type:

Article

Genetics and genomics of autism spectrum disorder: embracing complexity.

Published in:

Human Molecular Genetics, 2015, v. 24, n. 20, p. R24, doi. 10.1093/hmg/ddv273

By:

De Rubeis, Silvia;
Buxbaum, Joseph D.

Publication type:

Article